Eurordis - Rare Disease Europe

The BBC has been covering rare diseases and helping to raise awareness about the challenges faced by rare disease patients for over 3 decades. Indeed, the BBC’s Songs of Praise in 1982 helped EURORDIS Past President, Lesley Greene, to find other ‘orphan parents’ and specialists for her daughter’s rare metabolic disease and subsequently establish a patient group. The BBC also commissioned a programme called Diagnosis in 2011 featuring several rare diseases.

In addition, and on many occasions, a rare disease is featured on the popular medical dramas Casualty and Holby City. Indeed, Rosie Marcel who plays “nasty Jak” in Holby City recently revealed she has Behçets Syndrome. Furthermore, through its grants programme, BBC Children In Need regularly supports many projects linked to rare diseases which would otherwise struggle to obtain funding. The visibility of such broadcasts and the BBC Children In Need appeal provide huge publicity, support and networking opportunities which are invaluable to a community which struggles because of its “unpopular” image.

Over the years, the work of the BBC has put a face to rare diseases and highlighted important issues for people living with rare diseases, such as delayed or inaccurate diagnosis, difficulty accessing care, financial burden and tremendous feeling of isolation.

As an outstanding example of scientific research and European collaboration that has resulted in the successful development of the first gene therapy for rare diseases related to Severe Combined Immuno Deficiencies, which has set the stage for the extension of gene therapy to other genetic diseases with a high unmet medical need and for which there is currently no cure.

Severe Combined Immune Deficiencies (SCID) represent a collection of rare diseases caused by gene defects that prohibit the development and/or function of disease-fighting immune cells. Beginning in the first few months of life, these rare disorders are life-threatening and often lethal due to susceptibility to infections as well as complications due to the inflammatory and autoimmune responses. A bone marrow stem cell transplant from a compatible donor is one treatment option for these patients, but since there is a considerable lack of suitable bone marrow donors, there was a high need for alternative treatments.

Two European teams of researchers and clinicians have achieved the successful development of the first gene therapy for two of these rare diseases. This represents a commendable example of outstanding scientific research and collaboration that has resulted in a tremendously positive impact on the life of SCID patients and has set the stage for the extension of gene therapy to other genetic diseases with a high unmet medical need and for which there is currently no cure.

At the Necker Hospital in Paris, the longstanding focus of the INSERM team has been to characterise the genetic and molecular bases of inherited immunodeficiencies, identifying the causes of approximately 25 of them (T-cells deficiency, IgG and IgA deficiency, familial lymphohistiocytosis and related diseases, autoimmune lymphoproliferative syndrome, etc). Their work has contributed to a better understanding of how the human immune system functions as well as enabling the development of diagnostic tests and, most importantly, to lay down the basis for the gene therapy of the X-linked severe combined immunodeficiency (XL-SCID). This has now been successfully applied for close to 13 years and the results have led to a gradual extension of the application of this therapy for other inherited diseases of the hematopoietic system.

At the San Raffaele Hospital in Milan, the team of the Telethon Institute for Gene Therapy (TIGET) has focused on the ADA-SCID which is a form of SCID due to a mutation in the adenosine deaminase (ADA) gene, required for the generation of immune competent cells. ADA-SCID affects approximately 350 newborns worldwide every year. The team has established a novel gene therapy which is based on transferring a healthy ADA gene into the patient’s own hematopoietic stem cells. These cells are reintroduced in patients who are pre-treated in a way that allows optimal outgrowth of the healthy stem cells and the generation of a competent immune system. It has been shown that this therapy is safe and results in a complete cure providing effective protection against severe infections. The TIGET team is presently developing gene therapy for another immunodeficiency (Wiskott-Aldrich syndrome) and for a severe metabolic disease (Metachromatic leukodystrophy).

Kerstin Westermark, MD, PhD, will complete her second term as Chairperson of the Committee for Orphan Medicinal Products (COMP) in 2012 at the European Medicines Agency – EMA.

She has been a member of the COMP, first as Swedish delegate from 2000-2006 and then as Chairperson from 2006. She was the first woman to be elected chair of an EMA scientific committee.

During her mandate as COMP Chairperson, she has established close collaboration with the FDA and has encouraged interactions with other international agencies. Kerstin has enhanced close collaboration with the rare disease community, patient advocates and EURORDIS.

Kerstin currently heads a national centre for patients with Wilson Disease. She is a senior expert at the Swedish Medical Products Agency in Uppsala, where she has also served as Head of the Department of Clinical Trials. Kerstin is an Adjunct Professor of Medicine at the Uppsala University Faculty of Medicine.

Currently European Commissioner for Education, Culture, Multilingualism and Youth, Androulla Vassiliou, JD, served as Commissioner for Health and Consumer Policy from February 2008 to end of 2009. During this time, she was instrumental in making significant strides for European citizens living with a rare disease. Of particular importance were her political support that led to the launch of the Public Consultation, Rare Diseases: Europe’s Challenge, and the consequent adoption of the Commission Communication on Rare Diseases in November 2008, as well as the Council Recommendation on Rare Diseases in June 2009.

These two documents have established an overall and comprehensive policy framework, with an EU-wide and integrated strategy between EU and national levels on rare diseases related issues such as information, patient empowerment, research, diagnosis, treatment and care for rare disease patients throughout Europe.

Michele Lipucci Di Paola, PhD is a long standing dedicated volunteer of EURORDIS. He is former Vice President of the EURORDIS Board of Directors and was a member of the Board between 1997-2005.

As a result of the diagnosis of a family member with Thalassemia, he and his organisation AVLT (Associazione Veneta Lotta alla Talassemia) worked in cooperation with other international thalassemia associations to create and provide support to an international network of researchers and clinicians dedicated to identifying new clinical protocols and innovative therapeutic approaches such as gene therapy for this disease.

The result of this activity was support to national and international research projects.

Michele holds a PhD in plant biology and is Associate Professor at the University of Pisa, in addition to serving as patient representative member on the EMA Committee for Advanced Therapies (CAT). Dr. Lipucci Di Paola exemplifies the international movement to improve conditions for people living with rare diseases. His numerous affiliations and achievements have made and will continue to make an important difference at both the national and international levels.